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MYL12A (myosin light chain 12A)

Identity

Alias_namesmyosin, light polypeptide, regulatory, non-sarcomeric (20kD)
myosin, light chain 12A, regulatory, non-sarcomeric
Alias_symbol (synonym)MLCB
MYL2B
MRLC3
MRCL3
Other aliasHEL-S-24
MLC-2B
HGNC (Hugo) MYL12A
LocusID (NCBI) 10627
Atlas_Id 50808
Location 18p11.31  [Link to chromosome band 18p11]
Location_base_pair Starts at 3247530 and ends at 3256237 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADCY2 (5p15.31) / MYL12A (18p11.31)ATP5A1 (18q21.1) / MYL12A (18p11.31)HINT1 (5q23.3) / MYL12A (18p11.31)
LOC100507266 () / MYL12A (18p11.31)MYL12A (18p11.31) / MYL12A (18p11.31)MYL12A (18p11.31) / PRMT5 (14q11.2)
MYL12A (18p11.31) / TCN1 (11q12.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MYL12A   16701
Cards
Entrez_Gene (NCBI)MYL12A  10627  myosin light chain 12A
AliasesHEL-S-24; MLC-2B; MLCB; MRCL3; 
MRLC3; MYL2B
GeneCards (Weizmann)MYL12A
Ensembl hg19 (Hinxton)ENSG00000101608 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101608 [Gene_View]  chr18:3247530-3256237 [Contig_View]  MYL12A [Vega]
ICGC DataPortalENSG00000101608
TCGA cBioPortalMYL12A
AceView (NCBI)MYL12A
Genatlas (Paris)MYL12A
WikiGenes10627
SOURCE (Princeton)MYL12A
Genetics Home Reference (NIH)MYL12A
Genomic and cartography
GoldenPath hg38 (UCSC)MYL12A  -     chr18:3247530-3256237 +  18p11.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYL12A  -     18p11.31   [Description]    (hg19-Feb_2009)
EnsemblMYL12A - 18p11.31 [CytoView hg19]  MYL12A - 18p11.31 [CytoView hg38]
Mapping of homologs : NCBIMYL12A [Mapview hg19]  MYL12A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK222569 AK291145 AW958488 BC016372 BC031972
RefSeq transcript (Entrez)NM_001303047 NM_001303048 NM_001303049 NM_006471
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYL12A
Cluster EST : UnigeneHs.190086 [ NCBI ]
CGAP (NCI)Hs.190086
Alternative Splicing GalleryENSG00000101608
Gene ExpressionMYL12A [ NCBI-GEO ]   MYL12A [ EBI - ARRAY_EXPRESS ]   MYL12A [ SEEK ]   MYL12A [ MEM ]
Gene Expression Viewer (FireBrowse)MYL12A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10627
GTEX Portal (Tissue expression)MYL12A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19105   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19105
Splice isoforms : SwissVarP19105
PhosPhoSitePlusP19105
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_DJBP    EF_hand_dom   
Domain families : Pfam (Sanger)EF-hand_11 (PF08976)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam08976    pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)MYL12A
DMDM Disease mutations10627
Blocks (Seattle)MYL12A
SuperfamilyP19105
Human Protein AtlasENSG00000101608
Peptide AtlasP19105
HPRD14735
IPIIPI00220573   
Protein Interaction databases
DIP (DOE-UCLA)P19105
IntAct (EBI)P19105
FunCoupENSG00000101608
BioGRIDMYL12A
STRING (EMBL)MYL12A
ZODIACMYL12A
Ontologies - Pathways
QuickGOP19105
Ontology : AmiGOcalcium ion binding  protein binding  cytosol  muscle contraction  myosin complex  ephrin receptor signaling pathway  extracellular exosome  platelet aggregation  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytosol  muscle contraction  myosin complex  ephrin receptor signaling pathway  extracellular exosome  platelet aggregation  
Pathways : KEGGFocal adhesion    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton   
NDEx NetworkMYL12A
Atlas of Cancer Signalling NetworkMYL12A
Wikipedia pathwaysMYL12A
Orthology - Evolution
OrthoDB10627
GeneTree (enSembl)ENSG00000101608
Phylogenetic Trees/Animal Genes : TreeFamMYL12A
HOVERGENP19105
HOGENOMP19105
Homologs : HomoloGeneMYL12A
Homology/Alignments : Family Browser (UCSC)MYL12A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYL12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYL12A
dbVarMYL12A
ClinVarMYL12A
1000_GenomesMYL12A 
Exome Variant ServerMYL12A
ExAC (Exome Aggregation Consortium)MYL12A (select the gene name)
Genetic variants : HAPMAP10627
Genomic Variants (DGV)MYL12A [DGVbeta]
DECIPHERMYL12A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYL12A 
Mutations
ICGC Data PortalMYL12A 
TCGA Data PortalMYL12A 
Broad Tumor PortalMYL12A
OASIS PortalMYL12A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYL12A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYL12A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYL12A
DgiDB (Drug Gene Interaction Database)MYL12A
DoCM (Curated mutations)MYL12A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYL12A (select a term)
intoGenMYL12A
Cancer3DMYL12A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMYL12A
Genetic Testing Registry MYL12A
NextProtP19105 [Medical]
TSGene10627
GENETestsMYL12A
Target ValidationMYL12A
Huge Navigator MYL12A [HugePedia]
snp3D : Map Gene to Disease10627
BioCentury BCIQMYL12A
ClinGenMYL12A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10627
Chemical/Pharm GKB GenePA164723273
Clinical trialMYL12A
Miscellaneous
canSAR (ICR)MYL12A (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYL12A
EVEXMYL12A
GoPubMedMYL12A
iHOPMYL12A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:21:03 CEST 2017

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